The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas.

@article{Leontiou2008TheRO,
  title={The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas.},
  author={C. Leontiou and M. Gueorguiev and J. van der Spuy and R. Quinton and F. Lolli and S. Hassan and H. Chahal and S. Igreja and S. Jordan and J. Rowe and M. Stolbrink and H. Christian and J. Wray and D. Bishop-Bailey and D. Berney and J. Wass and V. Popovi{\'c} and A. Ribeiro-Oliveira and M. Gadelha and J. Monson and S. Akker and Julian R. E. Davis and R. Clayton and K. Yoshimoto and T. Iwata and A. Matsuno and K. Eguchi and M. Muşat and D. Flanagan and G. Peters and G. Bolger and J. Chapple and L. Frohman and A. Grossman and M. Korbonits},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2008},
  volume={93 6},
  pages={
          2390-401
        }
}
CONTEXT Mutations have been identified in the aryl hydrocarbon receptor-interacting protein (AIP) gene in familial isolated pituitary adenomas (FIPA). It is not clear, however, how this molecular chaperone is involved in tumorigenesis. OBJECTIVE AIP sequence changes and expression were studied in FIPA and sporadic adenomas. The function of normal and mutated AIP molecules was studied on cell proliferation and protein-protein interaction. Cellular and ultrastructural AIP localization was… Expand
Aryl hydrocarbon receptor interacting protein (AIP) mutations occur rarely in sporadic parathyroid adenomas.
TLDR
The germline nature of the mutations suggests that the AIP gene might predispose to primary hyperparathyroidism, which is rarely involved in parathyroid adenomas. Expand
Role of the aryl hydrocarbon receptor-interacting protein in familial isolated pituitary adenoma
TLDR
Information is summarized regarding the role of AIP in pituitary tumorigenesis and the clinical features of FIPA, which suggests that AIP is a tumor-suppressor gene. Expand
Aryl Hydrocarbon Receptor–Interacting Protein (AIP) N-Terminus Gene Mutations Identified in Pituitary Adenoma Patients Alter Protein Stability and Function
TLDR
Results indicate that N-terminus mutations lead to de-regulation of the effect of WT AIP on cAMP signalling and increased cAMP thresholds in GH3 cells resulting in increased growth hormone (GH) secretion. Expand
Characterization of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Mutations in Familial Isolated Pituitary Adenoma Families
TLDR
Exonic, promoter, splice‐site, and large deletion mutations in AIP are implicated in 31% of families in the authors' FIPA cohort, and missense and silent mutations are characterized using minigene constructs, luciferase and β‐galactosidase assays, as well as in silico predictions. Expand
A Novel Mutation of Aryl Hydrocarbon Receptor Interacting Protein Gene Associated with Familial Isolated Pituitary Adenoma Mediates Tumor Invasion and Growth Hormone Hypersecretion.
TLDR
The novel AIP mutation c.512C>T (p.T171I) is a pathogenic variant that promoted cell proliferation, invasiveness, and GH secretion through regulation of Sstr2, Zac1, and IL-6/phosphorylated-Stat3 expression. Expand
The Role of Aryl Hydrocarbon Receptor (AHR) and AHR-Interacting Protein (AIP) in the Pathogenesis of Pituitary Adenomas
TLDR
Current knowledge about the possible role of AhR and additional AIP-related ­proteins in pituitary tumorigenesis will be analysed. Expand
The AIP (aryl hydrocarbon receptor-interacting protein) gene and its relation to the pathogenesis of pituitary adenomas
TLDR
The presence of AIP mutations in a significant proportion of FIPA families as well as in apparently sporadic cases, particularly in young patients, suggests a need to screen such patients for Aip mutations to enable better clinical management. Expand
Molecular genetics of the aip gene in familial pituitary tumorigenesis.
TLDR
Clinical and molecular data regarding the role of AIP in the pituitary gland are summarized, showing it is not clear which interaction has the leading role in pituitsary tumorigenesis. Expand
The prevalence of the aryl hydrocarbon receptor-interacting protein gene in Familial Isolated Pituitary Adenomas
TLDR
The prevalence of AIP gene mutations in families with FIPA was examined and the association of tumor types and clinical characteristics with A IP gene mutations was determined to help clinicians to recognize AIPGene mutations. Expand
The expression of AIP-related molecules in elucidation of cellular pathways in pituitary adenomas.
TLDR
The present study shows that the expression of AR NT protein is significantly reduced in AIPmut+ tumors, and suggests that the down-regulation of ARNT may be connected to an imbalance in AHR/ARNT complex formation arising from aberrant cAMP signaling. Expand
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References

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Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas.
CONTEXT Limited screening suggests that three germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene are not involved in sporadic pituitary tumorigenesis. Multiple novelExpand
Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families.
TLDR
AIP mutations, of which nine new mutations have been described here, occur in approximately 15% of FIPA families, and although pituitary tumors occurring in association with AIP mutations are predominantly somatotropinomas, other tumor types are also seen. Expand
Aryl hydrocarbon receptor interacting protein variants in sporadic pituitary adenomas.
TLDR
The three specific AIP germline mutations do not play an important role in pathogenesis of sporadic pituitary tumors in U.S. patients and the main outcome measure was the prevalence of these specific germ line mutations in affected individuals. Expand
Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers
TLDR
LOH analysis revealed that AIP is lost in PAP tumours, suggesting that it acts as a tumour-suppressor gene, and somatic AIP mutations are not common in CRC, breast, and prostate cancers. Expand
No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia.
TLDR
The results are in agreement with previous studies in that prolactin-producing adenomas are component tumors in PAP and support the previous finding that somatic AIP mutations are not common in pituitary adenoma and suggest that such mutations are rare in other endocrine tumors as well. Expand
Germline mutation in the aryl hydrocarbon receptor interacting protein gene in familial somatotropinoma.
TLDR
The role of the AIP gene in familial acromegaly is confirmed, and the spectrum of molecular defects that can give rise to pituitary adenoma susceptibility is increased. Expand
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations
TLDR
AIP IHC, followed by genetic counseling and possible AIP mutation analysis in IHC-negative cases, appears feasible in identification of PAP, a procedure similar to the diagnostics of the Lynch syndrome. Expand
AIP Mutations are not Identified in Patients with Sporadic Pituitary Adenomas
TLDR
The results indicate that mutations in AIP are not identified in sporadic pituitary adenomas of Canadian patients, and this rare mechanism of pituitarian tumorigenesis appears to be unique to the initial Finnish and Italian families described. Expand
Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas.
TLDR
This study shows that age and gigantism are simple clinical features which can help to select patients for mutation screening and supports the role of AIP in pituitary tumorigenesis. Expand
Pituitary Adenoma Predisposition Caused by Germline Mutations in the AIP Gene
TLDR
Combining chip-based technologies with genealogy data, germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene in individuals with pituitary adenoma predisposition (PAP) are identified. Expand
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